SNP Report

Basic Info

Name	rs2295633 dbSNP Ensembl
Location	1:46408711 - 46408711(+)
Variant Seq	G
Ancestral Allele	G
Ref Seq	A
Minor Allele Frequence	0.394968
Annotation	downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000468718); upstream_gene_variant(ENST00000493636); intron_variant(ENST00000484697, ENST00000493735, ENST00000489366, ENST00000243167); NMD_transcript_variant(ENST00000484697); non_coding_transcript_variant(ENST00000493735, ENST00000489366)
SIFT Annotation	tolerated
SIFT Variant Effect	tolerated(ENST00000243167)
PolyPhen Annotation	benign
PolyPhen Variant Effect	benign(ENST00000243167)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	Chromatin interactive region
Chromatin State	Weak transcription;Strong transcription;Enhancers;ZNF genes & repeats;Bivalent Enhancer;Genic enhancers
No. of Marker's Association Results	4 (Positive: 2; Negative: 2; Trend: 0)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 4)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Pardini, M.,2012	Arousal symptoms	C/- compared with T/T: In patients with a PTSD clinical di...... C/- compared with T/T: In patients with a PTSD clinical diagnosis without vmPFC damage: P-value= 0.58, z=-0.6. In whole sample without vmPFC damage: P-value= 0.85, z=-0.78. In whole sample with vmPFC damage: P-value= 0.5, z=-0.8. More...	There was no difference in the frequency of cluster 'D' (aro...... There was no difference in the frequency of cluster 'D' (arousal). Moreover, taking into account the whole sample of patients with vmPFC damage, there were no differences in frequency of cluster 'D' symptoms. More...	Non-significant
Pardini, M.,2012	Avoidance symptoms	C/- compared with T/T: In patients with a PTSD clinical di...... C/- compared with T/T: In patients with a PTSD clinical diagnosis without vmPFC damage: P-value= 0.63, z=-0.4. In whole sample without vmPFC damage: P-value= 0.4, z=-0.8. In whole sample with vmPFC damage: P-value= 0.6, z=-1.6. More...	There was no difference in the frequency of cluster 'C' (avo...... There was no difference in the frequency of cluster 'C' (avoidance). Moreover, taking into account the whole sample of patients with vmPFC damage, there were no differences in frequency of cluster 'C' symptoms. More...	Non-significant
Pardini, M.,2012	PTSD	C/- compared with T/T: In TPBI subjects without vmPFC lesi...... C/- compared with T/T: In TPBI subjects without vmPFC lesions: X²= 10.1; P-value= 0.001. In the vmPFC lesion group: X²= 0.35; P-value= 0.55. More...	In TPBI subjects without vmPFC lesions, rs2295633 was the on...... In TPBI subjects without vmPFC lesions, rs2295633 was the only FAAH SNP to reveal a significant difference in PTSD prevalence. No FAAH SNPs revealed any significant difference in PTSD prevalence between the C/- compared with T/T groups when analyzing only those subjects with vmPFC lesions. More...	Significant
Pardini, M.,2012	Reexperiencing symptoms	C/- compared with T/T: In patients with a PTSD clinical dia...... C/- compared with T/T: In patients with a PTSD clinical diagnosis without vmPFC damage: P-value= 0.005, z=-2.73. In whole sample without vmPFC damage: P-value= 0.004, z=-2.86. In whole sample with vmPFC damage: P-value= 0.4, z=-0.9. More...	C/- subjects showed significantly more PTSD cluster 'B' symp...... C/- subjects showed significantly more PTSD cluster 'B' symptoms according to the DSM-IV-TR diagnostic criteria (persistent re-experiencing of the traumatic event) than T/T subjects both taking into account only those patients with a PTSD clinical diagnosis or the whole experimental group. Moreover, taking into account the whole sample of patients with vmPFC damage, there were no differences in frequency of cluster 'B' symptoms. More...	Significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
FAAH	fatty acid amide hydrolase	1p35-p34	8(3/5/0)
EFCAB14	EF-hand calcium binding domain 14	1p33	rSNP target

SNPs in LD with rs2295633 (count: 9)

The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r²<=0.8.

Literature-origin SNPs (count: 1)


rs_ID	Annotation	No. of Association Results(Positive/Negative/Trend)	r²[population]
rs3766246	intron_variant(ENST00000243167, ENST00000493735, ENST00000468718); non_coding_transcript_variant(ENST00000493735, ENST00000468718)	1(0/1/0)	0.8937[EUR]

LD-proxies (count: 8)

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs34124738	rs2295633	downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant	0.8007[EUR]
rs4141964	rs2295633 rs3766246	intron_variant; non_coding_transcript_variant	0.8937[EUR]
rs927898	rs2295633	downstream_gene_variant	0.8142[EUR]
rs61784641	rs2295633 rs3766246	downstream_gene_variant	0.9278[EUR]
rs10789489	rs2295633 rs3766246	downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant	0.9380[EUR]
rs55852959	rs2295633 rs3766246	upstream_gene_variant	0.9380[EUR]
rs55646923	rs2295633 rs3766246	downstream_gene_variant	0.9492[EUR]
rs6697851	rs2295633 rs3766246	downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.8776[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
CRHR1	Yes	Adipose Subcutaneous	cis	GTEx